Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10483353
rs10483353
AP4S1
2 14 31083414 intron variant T/C snv 5.4E-02 0.11 0.700 1.000 1 2019 2019
dbSNP: rs10503728
rs10503728
SLC25A37
2 8 23563489 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10511434
rs10511434
SMARCA2
2 9 2114024 intron variant T/C snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs10516140
rs10516140
SQSTM1
2 5 179813910 intron variant A/C snv 0.76 0.700 1.000 1 2019 2019
dbSNP: rs1064807
rs1064807
SDAD1P1
2 8 26379462 non coding transcript exon variant C/T snv 0.71 0.700 1.000 1 2017 2017
dbSNP: rs10710560
rs10710560
MXD1
2 2 69925927 intron variant T/- delins 9.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs10739069
rs10739069
RCL1
2 9 4863305 intron variant T/A snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs10741688
rs10741688
SOX6
2 11 15990568 intron variant A/C;T snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs10755927
rs10755927
LOC105375746
2 8 125617350 intergenic variant C/T snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs10758656
rs10758656
RCL1
7 9 4852599 intron variant A/G snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs10774463
rs10774463
WNK1
2 12 792399 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10801851
rs10801851
HFM1
2 1 91281449 intron variant C/T snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs10815095
rs10815095
RCL1 ; MIR101-2
4 9 4848297 intron variant A/G snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs10821339
rs10821339
NUTM2F ; LOC105376154
2 9 94324185 intron variant G/A snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs10844074
rs10844074
RESF1
2 12 31966182 intron variant T/C snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs10846305
rs10846305
LOC101928362
2 12 16157882 regulatory region variant A/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs10872447
rs10872447
PDE7B ; LOC101928373
2 6 135883367 non coding transcript exon variant A/G snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs10876169
rs10876169
SLC4A8 ; GALNT6
2 12 51389636 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10883353
rs10883353 		2 10 99496351 intergenic variant G/A snv 0.82 0.700 1.000 1 2019 2019
dbSNP: rs10897221
rs10897221 		2 11 62171647 downstream gene variant G/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs10898438
rs10898438 		2 11 86147211 intergenic variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10900586
rs10900586
ATP2B4
2 1 203684957 intron variant G/A snv 0.83 0.700 1.000 1 2017 2017
dbSNP: rs10926973
rs10926973
CEP170
2 1 243225068 intron variant A/T snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs10950673
rs10950673
SUN1
2 7 835002 intron variant A/G snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs10952780
rs10952780
EZH2
2 7 148857243 intron variant A/C snv 0.46 0.700 1.000 1 2019 2019